Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal muscle fiber morphology (HP:0004303)

Parent Node:
Abnormal muscle fiber protein expression (HP:0030089)

..Starting node
..Abnormal muscle fiber desmin (HP:0030224)

Term ID:

30224

Name:

Abnormal muscle fiber desmin

Synonym:

Abnormal muscle fibre desmin

Definition:

A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein.

Comments:

Reference:

HP:0030224

Genes and Diseases:

Child Nodes:

........

Accumulation of muscle fiber desmin (HP:0030225)

Sister Nodes:

Abnormal muscle fiber alpha dystroglycan (HP:0030112)

Abnormal muscle fiber alpha sarcoglycan (HP:0030100)

Abnormal muscle fiber beta sarcoglycan (HP:0030103)

Abnormal muscle fiber calpain-3 (HP:0030119)

Abnormal muscle fiber delta sarcoglycan (HP:0030105)

Abnormal muscle fiber dysferlin (HP:0030113)

Abnormal muscle fiber dystrophin expression (HP:0030096)

Abnormal muscle fiber emerin (HP:0030116)

Abnormal muscle fiber gamma sarcoglycan (HP:0030104)

Abnormal muscle fiber lamin A/C (HP:0030123)

Abnormal muscle fiber laminin beta 1 (HP:0030093)

Abnormal muscle fiber merosin expression (HP:0030090)

Abnormal muscle fiber myotilin (HP:0030226)

Abnormal muscle fiber valosin-containing protein (HP:0030228)

Reduced muscle collagen VI (HP:0030095)

Reduced muscle fiber perlecan (HP:0030122)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030224	HP:0030224	Abnormal muscle fiber desmin	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0030224	HP:0030225	Accumulation of muscle fiber desmin	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46

Genes (1) :CRYAB

Diseases (1) :ORPHA:399058

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.